Clin Res Cardiol (2021). 10.1007/s00392-021-01933-9

Management of familial hypercholesterolemia in Germany: a matched comparison of PROCYON survey data
K. Stein1, M. Wolf2, L. Beier1, O. Weingärtner3
1Novartis Pharma GmbH, Nürnberg; 2Cholesterin & Co e.V. (CholCo), Frankfurt; 3Klinik für Innere Medizin I - Kardiologie, Universitätsklinikum Jena, Jena;

Background: Familial hypercholesterolemia (FH) is an inherited lipid metabolism disorder that is associated with a high risk for cardiovascular (CV) disease already at a young age. Low-density lipoprotein cholesterol (LDL-C) lowering is essential for CV risk mitigation.

Purpose: The purpose of the present analysis was to evaluate the management of FH patients compared to hypercholesterolemia patients without FH and to identify potential areas in need for improvement.

Methods: The German PROCYON patient survey included over 5,000 patients with hypercholesterolemia, of whom 267 had genetically confirmed FH. For this subanalysis, a 2:1 matched control group (N=684) matched for gender, age, and comorbidities (type 1 and type 2 diabetes mellitus, hypertension, obesity) was identified from PROCYON.

Results: The most common reasons for diagnostic LDL-C assessment in FH patients was hospitalization due to a CV event (34.5%), routine check-up (41.9%), and family history (28.5%; multiple answers allowed). In the control group, these were routine check-up (61.7%), CV event (24.0%), and other diseases (22.5%), while family history was mentioned by 2.9%. Half of FH patients and one third of the control group experienced a CV event in the past (49.9% vs. 32.5%). General practitioners and internists are the main point of contact for both groups and cardiologists are seen by half of FH patients, almost twice as many as by the control group (46.1% vs. 23.8%). 14.2% of FH patients and 1.2% of the control group are seen by lipid clinics. The proportion of patients having quarterly LDL-C control assessments is higher in the FH than in the control group (41.2% vs. 27.5%). More FH patients are on a lipid lowering therapy compared to the control group (70.8% vs. 55.1%) including one third of FH patients under multiple therapy (31.7% vs. 11.7%). A higher proportion of FH patients reported improved LDL-C levels compared to the control group (40.1% vs. 34.1%). More FH patients reported fluctuating LDL-C levels (32.2% vs. 21.3%) than patients in the control group. The remaining patients reported worsened (7.1% vs. 6.0%) or unchanged (17.2% vs. 23.0%) levels or were not informed about LDL-C changes by their doctor (2.4% vs. 15.6%; FH vs. control). Among FH patients, 45.7% stated to know their target levels, in the control group the proportion was 26.2%. Twice as many FH patients rated their knowledge on LDL-C as good or very good compared to the control group (43.5% vs. 20.9%). Most used source of information in the FH and the control group is their physicians (76.4% vs. 64.5%). Patient organizations are consulted by 4.1% of FH patients and by 1.8% of the control group.

Conclusion(s): The results indicate a lack of routine screening for hypercholesterolemia with or without familial predisposition as patients are often identified only upon a CV event. Once diagnosed, FH patients seem to be managed better and more frequently monitored than hypercholesterolemia patients without FH. Nevertheless, the rate of CV events in both groups hints at insufficient prevention. The fact that the minority of patients receive multiple therapy and many still report fluctuating LDL-C levels indicate that treatment options are not used to their full potential. From a patient perspective, patients with FH seem to be more aware of the disease and better informed compared to hypercholesterolemia patients without FH. However, the role of patient organizations should be strengthened.


https://dgk.org/kongress_programme/ht2021/P764.htm